Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Huemer, Martina; Carvalho, Daniel; Brum, Jaime; Unal, ÖZLEM; COŞKUN, TURGAY; Weisfeld-Adams, James; Schrager, Nina; Scholl-Buergi, Sabine; Schlune, Andrea; Donner, Markus; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Haeberle, Johannes; Karall, Daniela

doi:10.1007/s10545-016-9928-y

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Atıf İçin Kopyala

Huemer M., Carvalho D. R., Brum J. M., Unal Ö., COŞKUN T., Weisfeld-Adams J. D., ...Daha Fazla

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.39, sa.3, ss.331-340, 2016 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 39 Sayı: 3
Basım Tarihi: 2016
Doi Numarası: 10.1007/s10545-016-9928-y
Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.331-340
Kocaeli Üniversitesi Adresli: Hayır

Özet

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.